Variant report

Variant	nsv597812
Chromosome Location	chr5:35505682-35577257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:35539988..35542729-chr5:35548091..35550770,2	K562	blood:
2	chr5:35539988..35542729-chr5:35548091..35550770,2	K562	blood:
3	chr5:35553551..35555369-chr5:35555940..35558510,2	K562	blood:
4	chr5:35540756..35542538-chr5:35544282..35546249,2	MCF-7	breast:
5	chr5:35547826..35549736-chr5:35553724..35555878,2	MCF-7	breast:
6	chr5:35553551..35555369-chr5:35555940..35558510,2	K562	blood:
7	chr5:35547826..35549736-chr5:35553724..35555878,2	MCF-7	breast:
8	chr5:35540756..35542538-chr5:35544282..35546249,2	MCF-7	breast:
9	chr5:35567368..35569385-chr5:35586004..35588708,2	MCF-7	breast:

No data

Extended variants
information (count: 956 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:956 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78359512	chr5:35513461-35513462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183236163	chr5:35513467-35513468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60775377	chr5:35513508-35513509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs57874690	chr5:35513522-35513523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187529228	chr5:35513523-35513524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114967254	chr5:35513530-35513531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569589748	chr5:35513560-35513561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533853682	chr5:35513586-35513587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528028615	chr5:35513587-35513588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376921905	chr5:35513591-35513592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558467935	chr5:35513592-35513593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566746603	chr5:35513594-35513595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549045216	chr5:35513617-35513618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577997211	chr5:35513735-35513736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533933056	chr5:35513749-35513750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150537928	chr5:35513759-35513760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184221573	chr5:35513860-35513861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115374964	chr5:35513863-35513864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187844864	chr5:35513879-35513880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555905626	chr5:35513889-35513890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77100635	chr5:35513911-35513912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111531563	chr5:35513961-35513962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544928582	chr5:35513993-35513994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565015446	chr5:35513998-35513999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527329168	chr5:35514002-35514003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540624917	chr5:35514049-35514050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138620005	chr5:35514067-35514068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141525582	chr5:35514069-35514070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549621198	chr5:35514114-35514115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374675919	chr5:35514116-35514117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569501689	chr5:35514163-35514164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373808341	chr5:35514188-35514189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531927282	chr5:35514236-35514237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552144341	chr5:35514279-35514280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs193208430	chr5:35514327-35514328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534200428	chr5:35514348-35514349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146190771	chr5:35514361-35514362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567763954	chr5:35514432-35514433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557805817	chr5:35514433-35514434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184391758	chr5:35514451-35514452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189427336	chr5:35514454-35514455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140172933	chr5:35514457-35514458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558819742	chr5:35514483-35514484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572207788	chr5:35514492-35514493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541039625	chr5:35514526-35514527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560697158	chr5:35514537-35514538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529692787	chr5:35514559-35514560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149855821	chr5:35514591-35514592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78336151	chr5:35514592-35514593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542241789	chr5:35518020-35518021	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35513400-35514600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:35518000-35519000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:35518000-35519000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:35519800-35520000	Enhancers	Gastric	stomach
5	chr5:35520000-35520600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:35538800-35539000	Enhancers	Liver	Liver
7	chr5:35539000-35540000	Weak transcription	Liver	Liver
8	chr5:35540200-35540400	Enhancers	Liver	Liver
9	chr5:35541600-35553400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:35542800-35543800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:35543000-35543800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:35543800-35545200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:35543800-35545200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:35545200-35545400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:35545200-35545600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:35545200-35545800	Enhancers	Dnd41	blood
17	chr5:35545200-35545800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:35545200-35545800	Active TSS	NHLF	lung
19	chr5:35556600-35559400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr5:35562000-35562800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:35562000-35563400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:35562600-35565000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr5:35563200-35563800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:35563600-35563800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:35563800-35567800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:35564800-35565600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr5:35565000-35565400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr5:35565400-35565600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:35567800-35568000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:35575000-35575200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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